G13A (p.Gly13Ala) variant of TUBB3 (Tubulin beta-3 chain)
G13A (p.Gly13Ala) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- gnomAD 16-89923439-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.91
- CADD 31.00
- PolyPhen-2 0.48
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available